Article
Medicine, General & Internal
Yuanzheng Lan, Yuhong Chen, Yunsheng Qiao, Qingdan Xu, Ruyi Zhai, Xinghuai Sun, Jihong Wu, Xueli Chen
Summary: This study aimed to identify the genetic cause of autosomal dominant retinitis pigmentosa (adRP) in a Chinese family and investigate the molecular mechanisms of incomplete penetrance. Through whole-genome sequencing and RNA-seq analysis, a novel large deletion of a gene was identified in mutation carriers, leading to significant differential gene expression compared to healthy controls.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Chemistry, Medicinal
Shihui Liu, Toshihiko Matsuo, Mary Miyaji, Osamu Hosoya
Summary: This study demonstrates that NK-4 injection reduces apoptotic cells and increases outer nuclear layer thickness in the retina of RCS rats. RNA-seq analysis and RT-qPCR validation revealed several up-regulated genes, suggesting the anti-apoptotic effects of NK-4 may be related to specific pathways.
Article
Neurosciences
Angeles Arzalluz-Luque, Jose Luis Cabrera, Heli Skottman, Alberto Benguria, Arantxa Bolinches-Amoros, Nicolas Cuenca, Vincenzo Lupo, Ana Dopazo, Sonia Tarazona, Barbara Delas, Miguel Carballo, Beatriz Pascual, Imma Hernan, Slaven Erceg, Dunja Lukovic
Summary: Retinitis pigmentosa is a rare progressive disease with no current therapeutic options. A study found that mutations in splicing factor PRPF8 lead to changes in splice site selection and exon inclusion, affecting retinal cell functions and specificity, offering a framework for novel therapeutic opportunities.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Cell Biology
Yu Zhou, Wanli Tian, Xiaoyan Jiang, Huining Yang, Zhilin Jiang, Xiao Li, Dan Jiang, Kuanxiang Sun, Yeming Yang, Wenjing Liu, Xianjun Zhu
Summary: By generating an Asrgl1 knockout mouse model using CRISPR/Cas9, the study found that Asrgl1 KO mice exhibited weakened ERG response at 8 months, decreased ONL thickness starting from 9 months, and progressive degeneration of rod and cone cells. RNA-seq identified 149 DEGs in Asrgl1 KO retina, associated with biological processes such as gastrointestinal disease and organismal injury. Glucocorticoid receptor signaling was highlighted as a significantly altered canonical pathway in Asrgl1 KO retina, with key molecules like NFE2L2, IL-4, Foxp3, and Fos in the central nodes of the interaction network.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Cell Biology
Yoko Ozawa, Eriko Toda, Kohei Homma, Hideto Osada, Norihiro Nagai, Kazuo Tsubota, Hideyuki Okano
Summary: In this study, the researchers demonstrated that 4-phenylbutyric acid (PBA) can protect photoreceptor function and prevent death in a hereditary blinding disease called retinitis pigmentosa (RP). They found that constant PBA treatment preserved a greater number of photoreceptors and upregulated key mitochondrial regulators, leading to improved mitochondrial function. This protection was also achieved through epigenetic changes. These findings provide evidence for the potential use of PBA as a treatment for RP and highlight its neuroprotective effects.
Article
Ophthalmology
Wenrong Xu, Yan Li, Yujie Dong, Libo Xiao, Lan Li, Kangwei Jiao
Summary: This study reveals the relationship between PARP1 and retinitis pigmentosa (RP) caused by phosphodiesterase 6 mutation. Gnat1 and Susd3 are identified as potential key genes in RP development and PARP1 regulation.
INTERNATIONAL OPHTHALMOLOGY
(2022)
Article
Critical Care Medicine
Zefang Sun, Tao Zhang, Caihong Ning, Dingcheng Shen, Wenwu Pei, Rui Zhou, Shuai Zhu, Gengwen Huang
Summary: This study investigated the association between Helicobacter pylori infection and gastric cancer using gene expression profiling and single-cell RNA sequencing. The results showed a significant correlation between H. pylori infection and gastric cancer development. Furthermore, the study found that H. pylori infection could induce gastric cancer cells to enhance their invasion and metastasis abilities by expressing specific genes.
Review
Biochemistry & Molecular Biology
Carla Enrica Gallenga, Maria Lonardi, Sofia Pacetti, Sara Silvia Violanti, Paolo Tassinari, Francesco Di Virgilio, Mauro Tognon, Paolo Perri
Summary: Retinitis pigmentosa is a genetic retinopathy, but non-genetic factors such as inflammation, autophagy, and oxidative stress play a crucial role in its pathogenesis and progression. Oxidative stress, caused by constant exposure to light/oxidative stress, results in accumulation of ROS in the retina, leading to microglial activation and photoreceptor degeneration. Various genetic mutations and alterations in cellular response contribute to the vicious cycle of neuroinflammation and degeneration in RP, suggesting microglia as a key target for oxidative stress therapy.
Article
Reproductive Biology
Jun-Lin Song, Yu-Jiang Sun, Gui-Qin Liu, Guo-Liang Zhang
Summary: This study investigated the biological effects of DON and ZEA exposure on donkey endometrial epithelial cells (EECs). The results showed that DON exposure changed the expression levels of pyroptosis-associated genes, while ZEA exposure changed the expression levels of inflammation-associated genes. Furthermore, exposure to DON and ZEA affected the expression of cancer-promoting genes and genes related to androgen and estrogen secretion.
Article
Biochemistry & Molecular Biology
Emily Clough, Tanya Barrett, Stephen E. Wilhite, Pierre Ledoux, Carlos Evangelista, Irene F. Kim, Maxim Tomashevsky, Kimberly A. Marshall, Katherine H. Phillippy, Patti M. Sherman, Hyeseung Lee, Naigong Zhang, Nadezhda Serova, Lukas Wagner, Vadim Zalunin, Andrey Kochergin, Alexandra Soboleva
Summary: The Gene Expression Omnibus (GEO) is an international public repository that archives gene expression and epigenomics data sets. It handles raw data files, processed data files, and descriptive metadata, and also provides web-based tools for analyzing and visualizing differential gene expression.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biology
Duygu Karademir, Vyara Todorova, Lynn J. A. Ebner, Marijana Samardzija, Christian Grimm
Summary: This study utilizes droplet-based single-cell RNA sequencing to investigate the degeneration process in rod and cone photoreceptor cells in an RP mouse model. The results identify early changes in rods and potential early responses in cones, suggesting mechanisms involved in secondary cone degeneration. Furthermore, the study implicates EGR1 as a potential key regulator of early degenerative events in both types of photoreceptor cells.
Article
Biochemistry & Molecular Biology
Konstantinos J. Bogias, Stephen M. Pederson, Shalem Leemaqz, Melanie D. Smith, Dale McAninch, Tanja Jankovic-Karasoulos, Dylan McCullough, Qianhui Wan, Tina Bianco-Miotto, James Breen, Claire T. Roberts
Summary: This study profiles transcript expression profiles in human placental tissue samples and finds that early placental development is mainly regulated by differential transcript expression (DTE) rather than differential gene expression (DGE). Transcript usage is likely a regulatory mechanism in early placentation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Madeleine Birgersson, Rajitha Indukuri, Linnea Lindquist, Lina Stepanauskaite, Qing Luo, Qiaolin Deng, Amena Archer, Cecilia Williams
Summary: By analyzing the genome-wide binding, gene regulation, and interaction between ERβ and LRH-1, this study provides a genome-wide mechanistic understanding of ovarian physiology and fertility.
Article
Cell Biology
Jun-Lin Song, Guo-Liang Zhang
Summary: Exposure to DON and ZEA in Equus asinus Sertoli cells led to changes in pyroptosis and inflammation-related genes, as well as upregulation of cancer-promoting genes and disruption of hormone secretion-related genes. The study highlighted the impact of different toxins on mRNA expression in Sertoli cells in vitro.
Article
Neurosciences
Chulbul M. Ahmeda, Michael T. Massengill, Cristhian J. Ildefonso, Archana Jalligampala, Ping Zhu, Hung Li, Anil P. Patel, Maureen A. McCall, Alfred S. Lewin
Summary: This study found that AAV-RHO820-shRNA820 can slow the loss of photoreceptor cells and preserve retinal function in P23H RHO transgenic mice. Moreover, the untreated contralateral eyes also showed the same protective effect. This suggests that RNA replacement therapy may provide clinical benefit to both eyes of adRP patients.
Article
Biotechnology & Applied Microbiology
Wei Du, Lvzhen Huang, Xin Tang, Jiarui Li, Xiaoxin Li
BIOMED RESEARCH INTERNATIONAL
(2020)
Article
Ophthalmology
Yuzhuo Fan, Jiarui Li, Lvzhen Huang, Kai Wang, Mingwei Zhao
Summary: The study found the presence of ADORA2A-DRD2 heterodimers in RPE cells and demonstrated that 7-methylxanthine (7-MX) may affect the behavior of RPE cells through the ADORA2A-DRD2 receptor pathway. This research provides important insights into the mechanism of how 7-MX controls myopia progression.
OPHTHALMIC RESEARCH
(2022)
Article
Ophthalmology
Liyuan Sun, Li Zhu, Sitong Chen, Jiarui Li, Xuewei Li, Kai Wang, Mingwei Zhao
Summary: This study investigated and compared the effects of optical and drug treatments on posterior-pole tissues, and explored the related transcriptional changes. It was found that EEF1A2 in the choroid may play a key role in the treatment of myopia.
OPHTHALMIC RESEARCH
(2022)
Article
Oncology
Tianchang Tao, Ningda Xu, Jiarui Li, Mingwei Zhao, Xiaoxin Li, Lvzhen Huang
Summary: Studies have found a correlation between the ubiquitin-proteasome system (UPS) and age-related macular degeneration (AMD). By knocking out the Ube3d gene in the retinal pigment epithelium (RPE) of mice, researchers observed retinal degeneration, vascular system attenuation, and decline in photoreceptor function. The RPE-specific Ube3d knockout mice also showed morphological changes similar to human AMD, suggesting a role of UPS dysfunction in the pathology of AMD. The loss of Ube3d also resulted in aberrant molecular characterizations associated with autophagy-lysosomal pathway, oxidative stress damage, and cell-cycle regulation.
JOURNAL OF PATHOLOGY
(2023)